SAVANA uses a machine learning algorithm to identify cancer-specific structural variations and copy number aberrations in long-read DNA sequencing data. The complex structure of cancer genomes means ...

More than half of the children involved in the study also received a diagnosis, while the medical care for 57 per cent of the children changed. Researchers from the Murdoch Children’s Research ...

Researchers at EMBL’s European Bioinformatics Institute (EMBL-EBI) have developed a new machine learning method called SAVANA that significantly reduces sequencing errors for cancer genomes. Long-read ...

Long-read sequencing technologies analyse long, continuous stretches of DNA. These methods have the potential to improve researchers’ ability to detect complex genetic alterations in cancer genomes.

The high complexity and diversity of the eukaryotic transcriptome poses significant challenges for the efficient detection of specific transcripts. Conventional targeted RNA-seq methods often require ...